{"id":"https://openalex.org/W2005279322","doi":"https://doi.org/10.1038/ng.2259","title":"Mutations in IRX5 impair craniofacial development and germ cell migration via SDF1","display_name":"Mutations in IRX5 impair craniofacial development and germ cell migration via SDF1","publication_year":2012,"publication_date":"2012-05-13","ids":{"openalex":"https://openalex.org/W2005279322","doi":"https://doi.org/10.1038/ng.2259","mag":"2005279322","pmid":"https://pubmed.ncbi.nlm.nih.gov/22581230"},"language":"en","primary_location":{"id":"doi:10.1038/ng.2259","doi":"https://doi.org/10.1038/ng.2259","is_oa":false,"landing_page_url":"https://doi.org/10.1038/ng.2259","pdf_url":null,"source":{"id":"https://openalex.org/S137905309","display_name":"Nature Genetics","issn_l":"1061-4036","issn":["1061-4036","1546-1718"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-class-a","anvur-scientific","cwts-core","dongbi-a","doyens","jufo-3","ki-jl-3","medline","norway-2","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310319908","host_organization_name":"Nature Portfolio","host_organization_lineage":["https://openalex.org/P4310319908","https://openalex.org/P4310319965"],"host_organization_lineage_names":["Nature Portfolio","Springer Nature"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Nature Genetics","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"green","oa_url":"https://hdl.handle.net/20.500.12684/3752","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5049710270","display_name":"Carine Bonnard","orcid":"https://orcid.org/0000-0003-1922-017X","observed_orcids":["https://orcid.org/0000-0003-1922-017X"]},"institutions":[{"id":"https://openalex.org/I115228651","display_name":"Agency for Science, Technology and Research","ror":"https://ror.org/036wvzt09","country_code":"SG","type":"government","lineage":["https://openalex.org/I115228651"]},{"id":"https://openalex.org/I4210147916","display_name":"Institute of Medical Biology","ror":"https://ror.org/04frzv033","country_code":"SG","type":"facility","lineage":["https://openalex.org/I115228651","https://openalex.org/I2801752549","https://openalex.org/I4210147916"]}],"countries":["SG"],"is_corresponding":false,"raw_author_name":"Carine Bonnard","raw_affiliation_strings":["Institute of Medical Biology, Agency for Science, Technology and Research (A*STAR), Singapore, Singapore"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institute of Medical Biology, Agency for Science, Technology and Research (A*STAR), Singapore, Singapore","institution_ids":["https://openalex.org/I115228651","https://openalex.org/I4210147916"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5114145044","display_name":"Anna Strobl","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I90344618","display_name":"Medical Research Council","ror":"https://ror.org/03x94j517","country_code":"GB","type":"government","lineage":["https://openalex.org/I4210087105","https://openalex.org/I90344618"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Anna C Strobl","raw_affiliation_strings":["Division of Systems Biology, Medical Research Council National Institute for Medical Research, London, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Systems Biology, Medical Research Council National Institute for Medical Research, London, UK","institution_ids":["https://openalex.org/I90344618"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5075648980","display_name":"Mohammad Shboul","orcid":"https://orcid.org/0000-0003-3286-1422","observed_orcids":["https://orcid.org/0000-0003-3286-1422"]},"institutions":[{"id":"https://openalex.org/I115228651","display_name":"Agency for Science, Technology and Research","ror":"https://ror.org/036wvzt09","country_code":"SG","type":"government","lineage":["https://openalex.org/I115228651"]},{"id":"https://openalex.org/I4210147916","display_name":"Institute of Medical Biology","ror":"https://ror.org/04frzv033","country_code":"SG","type":"facility","lineage":["https://openalex.org/I115228651","https://openalex.org/I2801752549","https://openalex.org/I4210147916"]}],"countries":["SG"],"is_corresponding":false,"raw_author_name":"Mohammad Shboul","raw_affiliation_strings":["Institute of Medical Biology, Agency for Science, Technology and Research (A*STAR), Singapore, Singapore"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institute of Medical Biology, Agency for Science, Technology and Research (A*STAR), Singapore, Singapore","institution_ids":["https://openalex.org/I115228651","https://openalex.org/I4210147916"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5014723151","display_name":"Hane Lee","orcid":"https://orcid.org/0000-0002-4736-0412","observed_orcids":["https://orcid.org/0000-0002-4736-0412"]},"institutions":[{"id":"https://openalex.org/I161318765","display_name":"University of California, Los Angeles","ror":"https://ror.org/046rm7j60","country_code":"US","type":"education","lineage":["https://openalex.org/I161318765"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Hane Lee","raw_affiliation_strings":["Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, California, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, California, USA","institution_ids":["https://openalex.org/I161318765"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5069489430","display_name":"Barry Merriman","orcid":"https://orcid.org/0000-0002-8042-3905","observed_orcids":["https://orcid.org/0000-0002-8042-3905"]},"institutions":[{"id":"https://openalex.org/I161318765","display_name":"University of California, Los Angeles","ror":"https://ror.org/046rm7j60","country_code":"US","type":"education","lineage":["https://openalex.org/I161318765"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Barry Merriman","raw_affiliation_strings":["Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, California, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, California, USA","institution_ids":["https://openalex.org/I161318765"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5073896107","display_name":"Stanley F. Nelson","orcid":"https://orcid.org/0000-0002-2082-3114","observed_orcids":["https://orcid.org/0000-0002-2082-3114"]},"institutions":[{"id":"https://openalex.org/I161318765","display_name":"University of California, Los Angeles","ror":"https://ror.org/046rm7j60","country_code":"US","type":"education","lineage":["https://openalex.org/I161318765"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Stanley F Nelson","raw_affiliation_strings":["Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, California, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, California, USA","institution_ids":["https://openalex.org/I161318765"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5102861759","display_name":"Osama H. Ababneh","orcid":"https://orcid.org/0000-0001-5090-2561","observed_orcids":["https://orcid.org/0000-0001-5090-2561"]},"institutions":[{"id":"https://openalex.org/I114972647","display_name":"University of Jordan","ror":"https://ror.org/05k89ew48","country_code":"JO","type":"education","lineage":["https://openalex.org/I114972647"]}],"countries":["JO"],"is_corresponding":false,"raw_author_name":"Osama H Ababneh","raw_affiliation_strings":["Department of Ophthalmology, Faculty of Medicine, University of Jordan, Amman, Jordan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Ophthalmology, Faculty of Medicine, University of Jordan, Amman, Jordan","institution_ids":["https://openalex.org/I114972647"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5020482170","display_name":"Elif Uz","orcid":"https://orcid.org/0000-0002-1459-5485","observed_orcids":["https://orcid.org/0000-0002-1459-5485"]},"institutions":[{"id":"https://openalex.org/I54001450","display_name":"D\u00fczce \u00dcniversitesi","ror":"https://ror.org/04175wc52","country_code":"TR","type":"education","lineage":["https://openalex.org/I54001450"]},{"id":"https://openalex.org/I66514158","display_name":"Hacettepe University","ror":"https://ror.org/04kwvgz42","country_code":"TR","type":"education","lineage":["https://openalex.org/I66514158"]}],"countries":["TR"],"is_corresponding":false,"raw_author_name":"Elif Uz","raw_affiliation_strings":["Department of Biology, Faculty of Arts and Sciences, Duzce University, Duzce, Turkey","Department of Medical Genetics, Gene Mapping Laboratory, Hacettepe University Medical Faculty, Ankara, Turkey"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Biology, Faculty of Arts and Sciences, Duzce University, Duzce, Turkey","institution_ids":["https://openalex.org/I54001450"]},{"raw_affiliation_string":"Department of Medical Genetics, Gene Mapping Laboratory, Hacettepe University Medical Faculty, Ankara, Turkey","institution_ids":["https://openalex.org/I66514158"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5024308636","display_name":"T\u00fclay G\u00fcran","orcid":"https://orcid.org/0000-0003-2658-6866","observed_orcids":["https://orcid.org/0000-0003-2658-6866"]},"institutions":[{"id":"https://openalex.org/I74897591","display_name":"Marmara University","ror":"https://ror.org/02kswqa67","country_code":"TR","type":"education","lineage":["https://openalex.org/I74897591"]}],"countries":["TR"],"is_corresponding":false,"raw_author_name":"T\u00fclay G\u00fcran","raw_affiliation_strings":["Pediatric Endocrinology and Diabetes, Marmara University Hospital, Istanbul, Turkey"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Pediatric Endocrinology and Diabetes, Marmara University Hospital, Istanbul, Turkey","institution_ids":["https://openalex.org/I74897591"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5026370929","display_name":"H\u00fclya Kayserili","orcid":"https://orcid.org/0000-0003-0376-499X","observed_orcids":["https://orcid.org/0000-0003-0376-499X","https://orcid.org/0000-0002-9563-3884"]},"institutions":[{"id":"https://openalex.org/I67581229","display_name":"Istanbul University","ror":"https://ror.org/03a5qrr21","country_code":"TR","type":"education","lineage":["https://openalex.org/I67581229"]}],"countries":["TR"],"is_corresponding":false,"raw_author_name":"H\u00fclya Kayserili","raw_affiliation_strings":["Medical Genetics Department, Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Medical Genetics Department, Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey","institution_ids":["https://openalex.org/I67581229"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5109868911","display_name":"Hanan Hamamy","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210106256","display_name":"University Hospital of Geneva","ror":"https://ror.org/01m1pv723","country_code":"CH","type":"healthcare","lineage":["https://openalex.org/I4210106256"]},{"id":"https://openalex.org/I4405263207","display_name":"National Center for Diabetes, Endocrinology and Genetic Diseases","ror":"https://ror.org/03x7rhv94","country_code":"JO","type":"healthcare","lineage":["https://openalex.org/I114972647","https://openalex.org/I4405263207"]}],"countries":["CH","JO"],"is_corresponding":false,"raw_author_name":"Hanan Hamamy","raw_affiliation_strings":["Department of Genetic Medicine and Development, Geneva University Hospital, Geneva, Switzerland","National Center for Diabetes, Endocrinology and Genetics, Amman, Jordan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Genetic Medicine and Development, Geneva University Hospital, Geneva, Switzerland","institution_ids":["https://openalex.org/I4210106256"]},{"raw_affiliation_string":"National Center for Diabetes, Endocrinology and Genetics, Amman, Jordan","institution_ids":["https://openalex.org/I4405263207"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5035455769","display_name":"Bruno Reversade","orcid":"https://orcid.org/0000-0002-4070-7997","observed_orcids":["https://orcid.org/0000-0002-4070-7997"]},"institutions":[{"id":"https://openalex.org/I115228651","display_name":"Agency for Science, Technology and Research","ror":"https://ror.org/036wvzt09","country_code":"SG","type":"government","lineage":["https://openalex.org/I115228651"]},{"id":"https://openalex.org/I165932596","display_name":"National University of Singapore","ror":"https://ror.org/01tgyzw49","country_code":"SG","type":"education","lineage":["https://openalex.org/I165932596"]},{"id":"https://openalex.org/I4210147916","display_name":"Institute of Medical Biology","ror":"https://ror.org/04frzv033","country_code":"SG","type":"facility","lineage":["https://openalex.org/I115228651","https://openalex.org/I2801752549","https://openalex.org/I4210147916"]}],"countries":["SG"],"is_corresponding":true,"raw_author_name":"Bruno Reversade","raw_affiliation_strings":["Department of Pediatrics, National University of Singapore, Singapore","Institute of Medical Biology, Agency for Science, Technology and Research (A*STAR), Singapore, Singapore"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics, National University of Singapore, Singapore","institution_ids":["https://openalex.org/I165932596"]},{"raw_affiliation_string":"Institute of Medical Biology, Agency for Science, Technology and Research (A*STAR), Singapore, Singapore","institution_ids":["https://openalex.org/I115228651","https://openalex.org/I4210147916"]}]}],"institutions":[],"countries_distinct_count":6,"institutions_distinct_count":12,"corresponding_author_ids":["https://openalex.org/A5035455769"],"corresponding_institution_ids":["https://openalex.org/I115228651","https://openalex.org/I165932596","https://openalex.org/I4210147916"],"apc_list":{"value":12690,"currency":"USD","value_usd":12690},"apc_paid":null,"fwci":1.5097,"has_fulltext":false,"cited_by_count":83,"citation_normalized_percentile":{"value":0.81011104,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":89,"max":99},"biblio":{"volume":"44","issue":"6","first_page":"709","last_page":"713"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10268","display_name":"Developmental Biology and Gene Regulation","score":0.698199987411499,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},"topics":[{"id":"https://openalex.org/T10268","display_name":"Developmental Biology and Gene Regulation","score":0.698199987411499,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T11679","display_name":"Craniofacial Disorders and Treatments","score":0.2094999998807907,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T11677","display_name":"Congenital heart defects research","score":0.021900000050663948,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/irx5","display_name":"IRX5","score":0.9929999709129333},{"id":"https://openalex.org/keywords/craniofacial-development","display_name":"craniofacial development","score":0.8650000095367432},{"id":"https://openalex.org/keywords/germ-cell-migration","display_name":"germ cell migration","score":0.9919999837875366},{"id":"https://openalex.org/keywords/cxcl12","display_name":"CXCL12","score":0.9599999785423279},{"id":"https://openalex.org/keywords/homeodomain-transcription-factor","display_name":"homeodomain transcription factor","score":0.7720000147819519},{"id":"https://openalex.org/keywords/gata3","display_name":"GATA3","score":0.7480000257492065},{"id":"https://openalex.org/keywords/trps1","display_name":"TRPS1","score":1.0},{"id":"https://openalex.org/keywords/congenital-disorder","display_name":"congenital disorder","score":0.6010000109672546},{"id":"https://openalex.org/keywords/recessive-mutations","display_name":"recessive mutations","score":0.5820000171661377},{"id":"https://openalex.org/keywords/pharyngeal-arches","display_name":"branchial arches","score":0.7080000042915344},{"id":"https://openalex.org/keywords/gonadal-development","display_name":"gonad development","score":0.9129999876022339},{"id":"https://openalex.org/keywords/xenopus-laevis-embryos","display_name":"Xenopus laevis embryos","score":0.7250000238418579},{"id":"https://openalex.org/keywords/transcriptional-repression","display_name":"transcriptional repression","score":0.6729999780654907},{"id":"https://openalex.org/keywords/protein-protein-interaction","display_name":"protein-protein interaction","score":0.7850000262260437},{"id":"https://openalex.org/keywords/craniofacial-dysmorphism","display_name":"craniofacial dysmorphism","score":0.7950000166893005}],"concepts":[{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.9385005235671997},{"id":"https://openalex.org/C2779535977","wikidata":"https://www.wikidata.org/wiki/Q1342298","display_name":"Xenopus","level":3,"score":0.729218602180481},{"id":"https://openalex.org/C121587040","wikidata":"https://www.wikidata.org/wiki/Q898769","display_name":"Homeobox","level":4,"score":0.7107363343238831},{"id":"https://openalex.org/C86339819","wikidata":"https://www.wikidata.org/wiki/Q407384","display_name":"Transcription factor","level":3,"score":0.6464782953262329},{"id":"https://openalex.org/C2781245598","wikidata":"https://www.wikidata.org/wiki/Q5182134","display_name":"Craniofacial","level":2,"score":0.5297654271125793},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.41940945386886597},{"id":"https://openalex.org/C2776878037","wikidata":"https://www.wikidata.org/wiki/Q169444","display_name":"Zebrafish","level":3,"score":0.4110930860042572},{"id":"https://openalex.org/C95444343","wikidata":"https://www.wikidata.org/wiki/Q7141","display_name":"Cell biology","level":1,"score":0.3868643343448639},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.1851024329662323}],"mesh":[{"descriptor_ui":"D000015","descriptor_name":"Abnormalities, Multiple","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D000015","descriptor_name":"Abnormalities, Multiple","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D000015","descriptor_name":"Abnormalities, Multiple","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D000818","descriptor_name":"Animals","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000818","descriptor_name":"Animals","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000818","descriptor_name":"Animals","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D001483","descriptor_name":"Base Sequence","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D001483","descriptor_name":"Base Sequence","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D001483","descriptor_name":"Base Sequence","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D001842","descriptor_name":"Bone and Bones","qualifier_ui":"Q000002","qualifier_name":"abnormalities","is_major_topic":false},{"descriptor_ui":"D001842","descriptor_name":"Bone and Bones","qualifier_ui":"Q000002","qualifier_name":"abnormalities","is_major_topic":false},{"descriptor_ui":"D001842","descriptor_name":"Bone and Bones","qualifier_ui":"Q000002","qualifier_name":"abnormalities","is_major_topic":false},{"descriptor_ui":"D001921","descriptor_name":"Brain","qualifier_ui":"Q000002","qualifier_name":"abnormalities","is_major_topic":false},{"descriptor_ui":"D001921","descriptor_name":"Brain","qualifier_ui":"Q000002","qualifier_name":"abnormalities","is_major_topic":false},{"descriptor_ui":"D001921","descriptor_name":"Brain","qualifier_ui":"Q000002","qualifier_name":"abnormalities","is_major_topic":false},{"descriptor_ui":"D001934","descriptor_name":"Branchial Region","qualifier_ui":"Q000166","qualifier_name":"cytology","is_major_topic":false},{"descriptor_ui":"D001934","descriptor_name":"Branchial Region","qualifier_ui":"Q000166","qualifier_name":"cytology","is_major_topic":false},{"descriptor_ui":"D001934","descriptor_name":"Branchial Region","qualifier_ui":"Q000166","qualifier_name":"cytology","is_major_topic":false},{"descriptor_ui":"D004268","descriptor_name":"DNA-Binding Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D004268","descriptor_name":"DNA-Binding Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D004268","descriptor_name":"DNA-Binding Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005786","descriptor_name":"Gene Expression Regulation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005786","descriptor_name":"Gene Expression Regulation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005786","descriptor_name":"Gene Expression Regulation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006066","descriptor_name":"Gonads","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006066","descriptor_name":"Gonads","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006066","descriptor_name":"Gonads","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006330","descriptor_name":"Heart Defects, Congenital","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D006330","descriptor_name":"Heart Defects, Congenital","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D006330","descriptor_name":"Heart Defects, Congenital","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008969","descriptor_name":"Molecular Sequence Data","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008969","descriptor_name":"Molecular Sequence Data","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008969","descriptor_name":"Molecular Sequence Data","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010375","descriptor_name":"Pedigree","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010375","descriptor_name":"Pedigree","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010375","descriptor_name":"Pedigree","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D012097","descriptor_name":"Repressor Proteins","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D012097","descriptor_name":"Repressor Proteins","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D012097","descriptor_name":"Repressor Proteins","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D013577","descriptor_name":"Syndrome","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D013577","descriptor_name":"Syndrome","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D013577","descriptor_name":"Syndrome","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D014157","descriptor_name":"Transcription Factors","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D014157","descriptor_name":"Transcription Factors","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D014157","descriptor_name":"Transcription Factors","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D014982","descriptor_name":"Xenopus laevis","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D014982","descriptor_name":"Xenopus laevis","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D014982","descriptor_name":"Xenopus laevis","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D018398","descriptor_name":"Homeodomain Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D018398","descriptor_name":"Homeodomain Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D018398","descriptor_name":"Homeodomain Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D019465","descriptor_name":"Craniofacial Abnormalities","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D019465","descriptor_name":"Craniofacial Abnormalities","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D019465","descriptor_name":"Craniofacial Abnormalities","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D029867","descriptor_name":"Xenopus Proteins","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D029867","descriptor_name":"Xenopus Proteins","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D029867","descriptor_name":"Xenopus Proteins","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D050990","descriptor_name":"GATA3 Transcription Factor","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D050990","descriptor_name":"GATA3 Transcription Factor","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D050990","descriptor_name":"GATA3 Transcription Factor","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":9,"locations":[{"id":"doi:10.1038/ng.2259","doi":"https://doi.org/10.1038/ng.2259","is_oa":false,"landing_page_url":"https://doi.org/10.1038/ng.2259","pdf_url":null,"source":{"id":"https://openalex.org/S137905309","display_name":"Nature Genetics","issn_l":"1061-4036","issn":["1061-4036","1546-1718"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-class-a","anvur-scientific","cwts-core","dongbi-a","doyens","jufo-3","ki-jl-3","medline","norway-2","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310319908","host_organization_name":"Nature Portfolio","host_organization_lineage":["https://openalex.org/P4310319908","https://openalex.org/P4310319965"],"host_organization_lineage_names":["Nature Portfolio","Springer Nature"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Nature Genetics","raw_type":"journal-article"},{"id":"pmid:22581230","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/22581230","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Nature genetics","raw_type":"Journal Article"},{"id":"pmh:d430e0ef-3eab-4074-853c-4800cba3574a","doi":null,"is_oa":false,"landing_page_url":"https://avesis.uludag.edu.tr/publication/details/d430e0ef-3eab-4074-853c-4800cba3574a/oai","pdf_url":null,"source":{"id":"https://openalex.org/S7407055210","display_name":"Bursa Uludag University - AVESIS","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"info:eu-repo/semantics/article"},{"id":"pmh:amcpub:oai:pure.amc.nl:publications/1100986f-1acc-440c-90d9-b157a39b744a","doi":null,"is_oa":false,"landing_page_url":"https://pure.amc.nl/en/publications/mutations-in-irx5-impair-craniofacial-development-and-germ-cell-migration-via-sdf1(1100986f-1acc-440c-90d9-b157a39b744a).html","pdf_url":null,"source":{"id":"https://openalex.org/S4306401843","display_name":"Data Archiving and Networked Services (DANS)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1322597698","host_organization_name":"Royal Netherlands Academy of Arts and Sciences","host_organization_lineage":["https://openalex.org/I1322597698"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Nature genetics, 44(6), 709 - U140. Nature Publishing Group","raw_type":"info:eu-repo/semantics/article"},{"id":"pmh:oai:acikerisim.duzce.edu.tr:20.500.12684/3752","doi":null,"is_oa":true,"landing_page_url":"https://hdl.handle.net/20.500.12684/3752","pdf_url":null,"source":{"id":"https://openalex.org/S4377196355","display_name":"DSpace - D\u00fczce (Duzce University)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I54001450","host_organization_name":"D\u00fczce \u00dcniversitesi","host_organization_lineage":["https://openalex.org/I54001450"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"","raw_type":"article"},{"id":"pmh:oai:openaccess.marmara.edu.tr:11424/112259","doi":null,"is_oa":false,"landing_page_url":"http://hdl.handle.net/11424/112259","pdf_url":null,"source":{"id":"https://openalex.org/S4306401380","display_name":"Dspace Repository (Marmara \u00dcniversitesi)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I74897591","host_organization_name":"Marmara University","host_organization_lineage":["https://openalex.org/I74897591"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"","raw_type":"article"},{"id":"pmh:oai:openaccess.marmara.edu.tr:11424/231045","doi":null,"is_oa":false,"landing_page_url":"https://hdl.handle.net/11424/231045","pdf_url":null,"source":{"id":"https://openalex.org/S4306401380","display_name":"Dspace Repository (Marmara \u00dcniversitesi)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I74897591","host_organization_name":"Marmara University","host_organization_lineage":["https://openalex.org/I74897591"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"article"},{"id":"pmh:oai:openaccess.marmara.edu.tr:11424/88221","doi":null,"is_oa":true,"landing_page_url":"http://hdl.handle.net/11424/88221","pdf_url":null,"source":{"id":"https://openalex.org/S4306401380","display_name":"Dspace Repository (Marmara \u00dcniversitesi)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I74897591","host_organization_name":"Marmara University","host_organization_lineage":["https://openalex.org/I74897591"],"host_organization_lineage_names":[],"type":"repository"},"license":"other-oa","license_id":"https://openalex.org/licenses/other-oa","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"","raw_type":"article"},{"id":"pmh:oai:pure.amsterdamumc.nl:openaire_cris_publications/9a8a1918-ed4a-45cd-acdf-35e95846bcbd","doi":null,"is_oa":false,"landing_page_url":"https://pure.amsterdamumc.nl/en/publications/9a8a1918-ed4a-45cd-acdf-35e95846bcbd","pdf_url":null,"source":{"id":"https://openalex.org/S7407055222","display_name":"Pure Amsterdam UMC","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Bonnard, C, Strobl, A C, Shboul, M, Lee, H, Merriman, B, Nelson, S F, Ababneh, O H, Uz, E, G\u00fcran, T, Kayserili, H, Hamamy, H & Reversade, B 2012, 'Mutations in IRX5 impair craniofacial development and germ cell migration via SDF1', Nature genetics, vol. 44, no. 6, pp. 709-U140. https://doi.org/10.1038/ng.2259","raw_type":"info:eu-repo/semantics/article"}],"best_oa_location":{"id":"pmh:oai:acikerisim.duzce.edu.tr:20.500.12684/3752","doi":null,"is_oa":true,"landing_page_url":"https://hdl.handle.net/20.500.12684/3752","pdf_url":null,"source":{"id":"https://openalex.org/S4377196355","display_name":"DSpace - D\u00fczce (Duzce University)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I54001450","host_organization_name":"D\u00fczce \u00dcniversitesi","host_organization_lineage":["https://openalex.org/I54001450"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"","raw_type":"article"},"sustainable_development_goals":[],"sustainable_development_goals_aurora":[],"study_designs":[],"awards":[],"funders":[{"id":"https://openalex.org/F4320323311","display_name":"Genome Institute of Singapore","ror":"https://ror.org/05k8wg936"}],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":29,"referenced_works":["https://openalex.org/W1569766571","https://openalex.org/W1971359363","https://openalex.org/W1974640915","https://openalex.org/W1983803401","https://openalex.org/W1984760920","https://openalex.org/W1997035797","https://openalex.org/W2003625711","https://openalex.org/W2015193920","https://openalex.org/W2016895566","https://openalex.org/W2023542816","https://openalex.org/W2032392236","https://openalex.org/W2033522367","https://openalex.org/W2058287717","https://openalex.org/W2061391711","https://openalex.org/W2062524531","https://openalex.org/W2077021664","https://openalex.org/W2082458487","https://openalex.org/W2093831365","https://openalex.org/W2101177856","https://openalex.org/W2115255062","https://openalex.org/W2116127231","https://openalex.org/W2132246429","https://openalex.org/W2132372281","https://openalex.org/W2138053090","https://openalex.org/W2138433638","https://openalex.org/W2144320400","https://openalex.org/W2149483845","https://openalex.org/W2165982976","https://openalex.org/W2170886788"],"related_works":["https://openalex.org/W2014201996","https://openalex.org/W97368944","https://openalex.org/W4256528904","https://openalex.org/W1597543017","https://openalex.org/W4245153001","https://openalex.org/W2888806461","https://openalex.org/W4243165149","https://openalex.org/W2084483306","https://openalex.org/W1147854688","https://openalex.org/W2025045697"],"abstract_inverted_index":null,"counts_by_year":[{"year":2026,"cited_by_count":5},{"year":2025,"cited_by_count":7},{"year":2024,"cited_by_count":6},{"year":2023,"cited_by_count":6},{"year":2022,"cited_by_count":7},{"year":2021,"cited_by_count":7},{"year":2020,"cited_by_count":6},{"year":2019,"cited_by_count":4},{"year":2018,"cited_by_count":12},{"year":2017,"cited_by_count":5},{"year":2016,"cited_by_count":5},{"year":2015,"cited_by_count":6},{"year":2014,"cited_by_count":6},{"year":2012,"cited_by_count":1}],"updated_date":"2026-10-17T09:40:24.721904","created_date":"2025-10-10T00:00:00"}